Ichthyosis, Harlequin Type

Synonyms

• Ichthyosis Fetalis
• Harlequin Fetus

Disorder Subdivisions

• None

General Discussion

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.

Resources

Foundation for Ichthyosis & Related Skin Types

1364 Welsh Road G2

North Wales, PA 19454

Tel: (215)619-0670

Fax: (215)619-0780

Tel: (800)545-3286

Email: info@scalyskin.org

Internet: http://www.scalyskin.org



NIH/National Institute of Allergy and Infectious Diseases

6610 Rockledge Drive

MSC 6612

Bethesda, MD 20892-6612

Tel: (301)496-5717

Fax: (301)402-3573

TDD: (800)877-8339

Internet: http://www.niaid.nih.gov/



National Registry for Ichthyosis and Related Disorders

University of Washington

Dermatology Department, Box 356524

1959 N.E. Pacific

Seattle, WA 98195-6524

Tel: (206)616-3179

Fax: (206)616-6793

Tel: (800)595-1265

Email: ichreg@u.washington.edu

Internet: http://www.skinregistry.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/5/2008

Copyright  1988, 1989, 1991, 1992, 1993, 1997, 2004, 2006 National Organization for Rare Disorders, Inc.